Dhcr7^tm1Fdp
Targeted Allele Detail

Summary

• Symbol: Dhcr7^tm1Fdp
• Name: 7-dehydrocholesterol reductase; targeted mutation 1, Forbes D Porter
• MGI ID: MGI:2181641
• Synonyms: Dhcr7^-
• Gene: Dhcr7 Location: Chr7:143376882-143402147 bp, + strand Genetic Position: Chr7, 88.33 cM, cytoband F5
• Alliance: Dhcr7^tm1Fdp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:68084
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• A PGK-neo cassette replaced all of exons 3 and 4 as well as a portion of exon 5. (J:68084)

Disease models

Expression

In Mice Carrying this Mutation:	28 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dhcr7 Mutation: 34 strains or lines available

References

• Original: J:68084 Wassif CA, et al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Hum Mol Genet. 2001 Mar 15;10(6):555-64
• All: 10 reference(s)